Combined immunodeficiency with CD4 lymphopenia and sclerosing cholangitis caused by a novel loss-of-function mutation affecting IL21R.

Erman B., Bilic I., Hirschmugl T., Salzer E., ÇAĞDAŞ AYVAZ D. N., Esenboga S., ...More

Haematologica, vol.100, no.6, 2015 (SCI-Expanded, Scopus)

• Publication Type: Article / Letter
• Volume: 100 Issue: 6
• Publication Date: 2015
• Doi Number: 10.3324/haematol.2014.120980
• Journal Name: Haematologica
• Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Keywords: combined immunodeficiencies, loss-of-function mutation, IL21R, CD4 lymphopenia, sclerosing cholangitis, SECRETING PLASMA-CELLS, IL-21 RECEPTOR, B-CELLS, INTERLEUKIN-21, DIFFERENTIATION, RESPONSES, STAT3, DEFICIENCY, ACTIVATION, NAIVE
• Hacettepe University Affiliated: Yes